Christina Jacobsen

Publications

1. Genetics of skeletal proportions across two different populations. Am J Hum Genet. 2026 Jun 04; 113(6):1364. View Abstract
2. Height-for-age adjusted bone mineral density and associated factors in youth with type 1 diabetes. Bone. 2026 Sep; 210:117931. View Abstract
3. Genetics of skeletal proportions across two different populations. Am J Hum Genet. 2026 04 02; 113(4):794-808. View Abstract
4. Rethinking race-based interpretation in pediatric densitometry: a scoping review. JBMR Plus. 2026 Apr; 10(4):ziag028. View Abstract
5. Role of Glycemia, Vitamin D, and Physical Activity in Bone Mineral Density in Youth With Type 1 Diabetes. Endocr Pract. 2026 Apr; 32(4):570-576. View Abstract
6. Enhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta. Bone. 2026 Jan; 202:117641. View Abstract
7. Enhancing Wnt signaling lowers fracture incidence in a severe mouse model of Osteogenesis Imperfecta. bioRxiv. 2025 May 27. View Abstract
8. Hospital-wide access to genomic data advanced pediatric rare disease research and clinical outcomes. NPJ Genom Med. 2024 Dec 02; 9(1):60. View Abstract
9. Subcortical plaques and inflammation reflect cortical and meningeal pathologies in progressive multiple sclerosis. Brain Pathol. 2025 May; 35(3):e13314. View Abstract
10. Case 21-2024: A 10-Month-Old Boy with Vomiting and Hypercalcemia. N Engl J Med. 2024 07 11; 391(2):167-176. View Abstract
11. Genetics of skeletal proportions in two different populations. bioRxiv. 2023 May 30. View Abstract
12. Application of postmortem imaging modalities in cases of sudden death due to cardiovascular diseases-current achievements and limitations from a pathology perspective : Endorsed by the Association for European Cardiovascular Pathology and by the International Society of Forensic Radiology and Imaging. Virchows Arch. 2023 Feb; 482(2):385-406. View Abstract
13. Investigation of Structural Alterations in Inherited Retinal Diseases: A Quantitative SD-OCT-Analysis of Retinal Layer Thicknesses in Light of Underlying Genetic Mutations. Int J Mol Sci. 2022 Dec 16; 23(24). View Abstract
14. 4-PBA Treatment Improves Bone Phenotypes in the Aga2 Mouse Model of Osteogenesis Imperfecta. J Bone Miner Res. 2022 04; 37(4):675-686. View Abstract
15. Prospective phenotyping of long-term survivors of generalized arterial calcification of infancy (GACI). Genet Med. 2021 02; 23(2):396-407. View Abstract
16. Single-Cell RNA Sequencing of Calvarial and Long-Bone Endocortical Cells. J Bone Miner Res. 2020 10; 35(10):1981-1991. View Abstract
17. Insight Into the Ontogeny of GnRH Neurons From Patients Born Without a Nose. J Clin Endocrinol Metab. 2020 05 01; 105(5). View Abstract
18. Combination therapy in the Col1a2G610C mouse model of Osteogenesis Imperfecta reveals an additive effect of enhancing LRP5 signaling and inhibiting TGFß signaling on trabecular bone but not on cortical bone. Bone. 2020 02; 131:115084. View Abstract
19. Retinoic-acid-induced osteogenesis of hiPSCs. Nat Biomed Eng. 2019 07; 3(7):504-506. View Abstract
20. The Outcomes of Nonelongating Intramedullary Fixation of the Lower Extremity for Pediatric Osteogenesis Imperfecta Patients: A Meta-analysis. J Pediatr Orthop. 2017 Jul/Aug; 37(5):e313-e316. View Abstract
21. SMCHD1 mutations associated with a rare muscular dystrophy can also cause isolated arhinia and Bosma arhinia microphthalmia syndrome. Nat Genet. 2017 Feb; 49(2):238-248. View Abstract
22. Application of anti-Sclerostin therapy in non-osteoporosis disease models. Bone. 2017 03; 96:18-23. View Abstract
23. Enhanced Wnt signaling improves bone mass and strength, but not brittleness, in the Col1a1(+/mov13) mouse model of type I Osteogenesis Imperfecta. Bone. 2016 09; 90:127-32. View Abstract
24. Bone mineral properties in growing Col1a2(+/G610C) mice, an animal model of osteogenesis imperfecta. Bone. 2016 06; 87:120-9. View Abstract
25. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) gene as a cause of short stature. Hum Mutat. 2015 Apr; 36(4):474-81. View Abstract
26. Reply to Lrp5 regulation of bone mass and gut serotonin synthesis. Nat Med. 2014 Nov; 20(11):1229-30. View Abstract
27. Targeting the LRP5 pathway improves bone properties in a mouse model of osteogenesis imperfecta. J Bone Miner Res. 2014 Oct; 29(10):2297-306. View Abstract
28. Copy number variation plays an important role in clinical epilepsy. Ann Neurol. 2014 Jun; 75(6):943-58. View Abstract
29. Short stature, accelerated bone maturation, and early growth cessation due to heterozygous aggrecan mutations. J Clin Endocrinol Metab. 2014 Aug; 99(8):E1510-8. View Abstract
30. Sclerostin inhibition reverses skeletal fragility in an Lrp5-deficient mouse model of OPPG syndrome. Sci Transl Med. 2013 Nov 13; 5(211):211ra158. View Abstract
31. An RNA-seq protocol to identify mRNA expression changes in mouse diaphyseal bone: applications in mice with bone property altering Lrp5 mutations. J Bone Miner Res. 2013 Oct; 28(10):2081-93. View Abstract
32. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1333-6. View Abstract
33. Proximal tibial pain in a child. Skeletal Radiol. 2013 Sep; 42(9):1297-9, 1333-6. View Abstract
34. Lrp5 functions in bone to regulate bone mass. Nat Med. 2011 Jun; 17(6):684-91. View Abstract
35. Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. J Clin Endocrinol Metab. 2010 Sep; 95(9):4184-91. View Abstract
36. Craniocerebral trauma--congruence between post-mortem computed tomography diagnoses and autopsy results: a 2-year retrospective study. Forensic Sci Int. 2010 Jan 30; 194(1-3):9-14. View Abstract
37. Three novel IGFALS gene mutations resulting in total ALS and severe circulating IGF-I/IGFBP-3 deficiency in children of different ethnic origins. Horm Res. 2009; 71(2):100-10. View Abstract
38. Short stature in a phenotypic male caused by mixed gonadal dysgenesis. Nat Clin Pract Endocrinol Metab. 2008 Sep; 4(9):524-8. View Abstract
39. GATA-4:FOG interactions regulate gastric epithelial development in the mouse. Dev Dyn. 2005 Oct; 234(2):355-62. View Abstract
40. Transcription factor GATA-6 is expressed in the endocrine and GATA-4 in the exocrine pancreas. Mol Cell Endocrinol. 2004 Oct 29; 226(1-2):51-7. View Abstract
41. GATA-4, GATA-5, and GATA-6 activate the rat liver fatty acid binding protein gene in concert with HNF-1alpha. Am J Physiol Gastrointest Liver Physiol. 2004 Nov; 287(5):G1086-99. View Abstract
42. Genetic mosaic analysis reveals that GATA-4 is required for proper differentiation of mouse gastric epithelium. Dev Biol. 2002 Jan 01; 241(1):34-46. View Abstract
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